PRKG1 protein kinase cGMP-dependent 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRKG1provided by HGNC
Official Full Name: protein kinase cGMP-dependent 1provided by HGNC
Primary source: HGNC:HGNC:9414
See related: Ensembl:ENSG00000185532 MIM:176894; AllianceGenome:HGNC:9414
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PKG; cGK; AAT8; PKG1; cGK1; cGKI; cGK 1; PRKG1B; PRKGR1B; cGKI-BETA; cGKI-alpha
Summary: Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in endometrium (RPKM 4.7), lung (RPKM 4.4) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q11.23-q21.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (50990888..52298350)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (51839480..53144930)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (52750648..54058110)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PKG1 promotes the HIV-induced proliferation, migration, and fibrosis of vascular smooth muscle cells of hemorrhoids.
Title: PKG1 promotes the HIV-induced proliferation, migration, and fibrosis of vascular smooth muscle cells of hemorrhoids.
Association between PRKG1 gene and gene-environment interactions with pediatric asthma.
Title: Association between PRKG1 gene and gene-environment interactions with pediatric asthma.
Anti-NSCLC role of SCN4B by negative regulation of the cGMP-PKG pathway: Integrated utilization of bioinformatics analysis and in vitro assay validation.
Title: Anti-NSCLC role of SCN4B by negative regulation of the cGMP-PKG pathway: Integrated utilization of bioinformatics analysis and in vitro assay validation.
Increased endogenous PKG I activity attenuates EGF-induced proliferation and migration of epithelial ovarian cancer via the MAPK/ERK pathway.
Title: Increased endogenous PKG I activity attenuates EGF-induced proliferation and migration of epithelial ovarian cancer via the MAPK/ERK pathway.
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene.
Title: Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene.
Mutual Protein-Ligand Conformational Selection Drives cGMP vs. cAMP Selectivity in Protein Kinase G.
Title: Mutual Protein-Ligand Conformational Selection Drives cGMP vs. cAMP Selectivity in Protein Kinase G.
Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes.
Title: Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes.
Nociceptor-localized cGMP-dependent protein kinase I is a critical generator for central sensitization and neuropathic pain.
Title: Nociceptor-localized cGMP-dependent protein kinase I is a critical generator for central sensitization and neuropathic pain.
Expression profiles of PRKG1, SDF2L1 and PPP1R12A are predictive and prognostic factors for therapy response and survival in high-grade serous ovarian cancer.
Title: Expression profiles of PRKG1, SDF2L1 and PPP1R12A are predictive and prognostic factors for therapy response and survival in high-grade serous ovarian cancer.
A substitution in cGMP-dependent protein kinase 1 associated with aortic disease induces an active conformation in the absence of cGMP.
Title: A substitution in cGMP-dependent protein kinase 1 associated with aortic disease induces an active conformation in the absence of cGMP.

Submit: New GeneRIF Correction See all GeneRIFs (110)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aortic aneurysm, familial thoracic 8 MedGen: C3809513 OMIM: 615436 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat potentiates NMDA-evoked (Ca2+)I responses involve LRP and a Src family kinase via the NOS/sGC/PKG pathway	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121149 (e-PCR)
- UniSTS:134144

G10176 (e-PCR)
- UniSTS:73728

SHGC-106825 (e-PCR)
- UniSTS:169999

SHGC-84604 (e-PCR)
- UniSTS:102932

RH119946 (e-PCR)
- UniSTS:133148

D10S567 (e-PCR), detects polymorphism
- UniSTS:60709

SHGC-81463 (e-PCR)
- UniSTS:103217

D10S2283 (e-PCR)
- UniSTS:41015

G17455 (e-PCR)
- UniSTS:29526

SHGC-80830 (e-PCR)
- UniSTS:102487

D10S1195 (e-PCR)
- UniSTS:78939

SHGC-36560 (e-PCR)
- UniSTS:18272

G17500 (e-PCR)
- UniSTS:14947

RH70960 (e-PCR)
- UniSTS:48485

RH120304 (e-PCR)
- UniSTS:132211

RH122793 (e-PCR)
- UniSTS:135028

D10S1458 (e-PCR)
- UniSTS:47234

GDB:193872 (e-PCR)
- UniSTS:155780

D10S568 (e-PCR)
- UniSTS:39568

SHGC-112296 (e-PCR)
- UniSTS:168599

SHGC-152619 (e-PCR)
- UniSTS:177559

STS-H95359 (e-PCR)
- UniSTS:17057

SHGC-111919 (e-PCR)
- UniSTS:182182

SHGC-106527 (e-PCR)
- UniSTS:169895

AFM308XA9 (e-PCR)
- UniSTS:23464

RH46235 (e-PCR)
- UniSTS:44470

D10S2341 (e-PCR)
- UniSTS:54980

STS-H97927 (e-PCR)
- UniSTS:1222

D10S567 (e-PCR), detects polymorphism
- UniSTS:716

SHGC-111555 (e-PCR)
- UniSTS:168396

PRKG1__5582 (e-PCR)
- UniSTS:463829

STS-H95817 (e-PCR)
- UniSTS:74458

WI-11512 (e-PCR)
- UniSTS:37596

D10S568 (e-PCR)
- UniSTS:50915

RH118458 (e-PCR)
- UniSTS:109284

WI-15606 (e-PCR)
- UniSTS:77546

G09557 (e-PCR)
- UniSTS:36855

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cGMP binding	IEA Inferred from Electronic Annotation more info
enables cGMP-dependent protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cGMP-dependent protein kinase activity	TAS Traceable Author Statement more info
enables calcium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables mitogen-activated protein kinase p38 binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
involved_in collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in dendrite development	IEA Inferred from Electronic Annotation more info
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of glutamate secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inositol phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
NOT involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of testosterone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in relaxation of vascular associated smooth muscle	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cGMP-dependent protein kinase 1

Names: protein kinase, cGMP-dependent, regulatory, type I, beta; protein kinase, cGMP-dependent, type I

NP_001091982.1

EC 2.7.11.12

NP_001361710.1

EC 2.7.11.12

NP_001361711.1

EC 2.7.11.12

NP_006249.1

EC 2.7.11.12

XP_011538254.1

EC 2.7.11.12

XP_016871902.1

EC 2.7.11.12

XP_054222271.1

EC 2.7.11.12

XP_054222272.1

EC 2.7.11.12

XP_054222273.1

EC 2.7.11.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029982.1 RefSeqGene

Range

4738..1312200

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1135

mRNA and Protein(s)

NM_001098512.3 → NP_001091982.1 cGMP-dependent protein kinase 1 isoform 1

See identical proteins and their annotated locations for NP_001091982.1

Status: REVIEWED

Source sequence(s)

AL599933, AL731537, BC127090, BQ445850, BX097700, BX117079, BX952280, CD723759, D45864, DA646702, DA915933, DB138350, DC381245

Consensus CDS

CCDS44399.1

UniProtKB/Swiss-Prot

A5YM56, B3KSF3, E2PU10, P14619, Q13976, Q5JP05, Q5JSJ6, Q6P5T7

Related

ENSP00000384200.4, ENST00000401604.8

Conserved Domains (4) summary

cd12085
Location:2 → 49

DD_cGKI-alpha; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I alpha

smart00133
Location:621 → 664

S_TK_X; Extension to Ser/Thr-type protein kinases

cd00038
Location:222 → 326

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

cd05572
Location:366 → 626

STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
NM_001374781.1 → NP_001361710.1 cGMP-dependent protein kinase 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC009986, AC022025, AC027118, AL928686

Conserved Domains (2) summary

smart00133
Location:233 → 276

S_TK_X; Extension to Ser/Thr-type protein kinases

cd05572
Location:1 → 238

STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
NM_001374782.1 → NP_001361711.1 cGMP-dependent protein kinase 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC022025, AC022537, AC026228, AL157399, AL391378, AL731537

Consensus CDS

CCDS91244.1

UniProtKB/TrEMBL

A0A2R8Y507, A6NFM3, B1ALS0

Related

ENSP00000363087.4, ENST00000373976.9

Conserved Domains (3) summary

smart00100
Location:237 → 310

cNMP; Cyclic nucleotide-monophosphate binding domain

cd12086
Location:4 → 55

DD_cGKI-beta; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I beta

cd00038
Location:118 → 227

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
NM_006258.4 → NP_006249.1 cGMP-dependent protein kinase 1 isoform 2

See identical proteins and their annotated locations for NP_006249.1

Status: REVIEWED

Source sequence(s)

AL599933, BC127090, BQ445850, BX097700, BX952280, CD723759, DA150150, DA646702, DA915933, DB138350

Consensus CDS

CCDS7244.1

UniProtKB/Swiss-Prot

Q13976

Related

ENSP00000363092.5, ENST00000373980.11

Conserved Domains (4) summary

cd12086
Location:4 → 55

DD_cGKI-beta; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I beta

smart00133
Location:636 → 679

S_TK_X; Extension to Ser/Thr-type protein kinases

cd00038
Location:237 → 341

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

cd05572
Location:381 → 641

STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

50990888..52298350

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016413.2 → XP_016871902.1 cGMP-dependent protein kinase 1 isoform X1
XM_011539952.3 → XP_011538254.1 cGMP-dependent protein kinase 1 isoform X2

Conserved Domains (3) summary

cd12086
Location:4 → 55

DD_cGKI-beta; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I beta

COG0664
Location:116 → 218

Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]

cd00038
Location:237 → 341

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...